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A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?
Am J Med Genet A. 2018 Jul;176(7):1637-1640. doi: 10.1002/ajmg.a.38725. Epub 2018 Apr 28.
Am J Med Genet A. 2018.
PMID: 29704308
Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.
Hartley CL, Barry PJ, Green H, Henchliffe J, Brock J, Tobi SE, Ramsden SC, Horsley AR.
Hartley CL, et al. Among authors: henchliffe j.
J Cyst Fibros. 2016 Sep;15(5):e50-1. doi: 10.1016/j.jcf.2016.03.003. Epub 2016 Apr 9.
J Cyst Fibros. 2016.
PMID: 27067634
Free article.
No abstract available.
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